CYFIP1
Description
The CYFIP1 (cytoplasmic FMR1 interacting protein 1) is a protein-coding gene located on chromosome 15.
CYFIP1 (Cytoplasmic FMR1-interacting protein 1) is a protein encoded by the CYFIP1 gene in humans. It interacts with FMR1, excluding FXR1 and FXR2, and is part of the WAVE regulatory complex (WRC). CYFIP1 is believed to provide the binding site for the WRC to Rac1 based on the crystal structure of the WRC.
CYFIP1 is a component of the CYFIP1-EIF4E-FMR1 complex, which binds to the mRNA cap and mediates translational repression. Within this complex, CYFIP1 acts as an adapter between EIF4E and FMR1, promoting the translation repression activity of FMR1 in the brain by mediating its association with EIF4E and mRNA. CYFIP1 also plays a role in regulating the formation of membrane ruffles and lamellipodia, axon outgrowth, and epithelial morphogenesis. It binds to F-actin but not to RNA and is part of the WAVE complex, which regulates actin filament reorganization through its interaction with the Arp2/3 complex. CYFIP1's actin remodeling activity is regulated by RAC1. As a component of the WAVE1 complex, CYFIP1 is required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes. It may also act as an invasion suppressor in cancers.
CYFIP1 is also known as P140SRA-1, SHYC, SRA-1, SRA1.
Associated Diseases
- endometrial cancer
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- isolated spina bifida
- spina bifida-hypospadias syndrome
- anencephaly 1
- Prader-Willi syndrome
- pancreatic triacylglycerol lipase deficiency
